1. Gene
  2. RYR3 - ryanodine receptor 3 Gene

RYR3 - ryanodine receptor 3 Gene

中文名称:兰尼碱受体 3

种属: Homo sapiens

同用名: RYR-3

基因 ID: 6263 | 基因类型: protein coding

关于 RYR3

Cytogenetic location: 15q13.3-q14 Genomic coordinates (GRCh38): 15:33,310,967-33,866,102 (from NCBI)

This gene has 35 transcripts (splice variants), 283 orthologues, 5 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 1.5), endometrium (RPKM 1.4) and 19 other tissues.

功能概要

该基因编码的蛋白质是兰尼碱受体,其功能是从细胞内储存中释放钙,用于许多细胞过程。例如,编码的蛋白质通过从肌质网释放钙,然后使 T 管去极化,从而参与骨骼肌收缩。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2011 年 9 月]

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

RYR3 基因产物(2)

mRNA Protein Name
NM_001036.6 NP_001027.3 ryanodine receptor 3 isoform 1
NM_001243996.4 NP_001230925.1 ryanodine receptor 3 isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables intracellularly gated calcium channel activity IMP
IMP: 通过突变表型推断
9395096 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transport IMP
IMP: 通过突变表型推断
9395096 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RYR3 蛋白结构

Ins145_P3_rec

Ins145_P3_rec: Inositol 1,4,5-trisphosphate/ryanodine receptor (11 - 211)

MIR

MIR: MIR domain (216 - 391)

RYDR_ITPR

RYDR_ITPR: RIH domain (438 - 641)

SPRY

SPRY: SPRY domain (658 - 795)

RyR

RyR: RyR domain (849 - 939)

RyR

RyR: RyR domain (962 - 1055)

SPRY

SPRY: SPRY domain (1084 - 1205)

SPRY

SPRY: SPRY domain (1326 - 1463)

RYDR_ITPR

RYDR_ITPR: RIH domain (2021 - 2228)

RyR

RyR: RyR domain (2597 - 2690)

RyR

RyR: RyR domain (2716 - 2800)

RIH_assoc

RIH_assoc: RyR and IP3R Homology associated (3723 - 3844)

RR_TM4-6

RR_TM4-6: Ryanodine Receptor TM 4-6 (4234 - 4504)

Ion_trans

Ion_trans: Ion transport protein (4634 - 4769)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4870 a.a.
蛋白主名 其他名称

ryanodine receptor 3

brain ryanodine receptor-calcium release channel

关联疾病

疾病名称 别名
Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Neuroleptic Malignant Syndrome
Central Core Disease Of Muscle

Central Core Disease

Central Core Myopathy

CCD

Cco

Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Myopathy, Central Core

Shy-Magee Syndrome

Muscle Core Disease

Muscular Central Core Disease

Myopathy, Central Fibrillar

Shy'S Disease

Moderate Multiminicore Disease With Hand Involvement

King-Denborough Syndrome

King Denborough Syndrome

King Syndrome

Kousseff Nichols Syndrome

KDS

Noonan Like Contracture Myopathy Hyperpyrexia

Anesthetic-Induced Malignant Hyperpyrexia In Children

Koussef-Nichols Syndrome

Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2

ARVD2

Arrhythmogenic Right Ventricular Cardiomyopathy 2

Arvc2

Familial Arrhythmogenic Right Ventricular Dysplasia 2

Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Congenital Structural Myopathy
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2

CPVT2

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Ventricular Tachycardia, Stress-Induced Polymorphic

Cvpt2

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Myopathy

Muscular Diseases

Myopathies

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RYR3 VGNC VGNC:84763
Rattus norvegicus RYR3 RGD RGD:68952
Mus musculus RYR3 MGD MGI:99684
Canis familiaris RYR3 VGNC VGNC:45823
Bos taurus RYR3 VGNC VGNC:34235
Felis catus RYR3 VGNC VGNC:64837